The Patient with Turner Syndrome: Puberty and Medical Management Concerns

Capsule:
In Turner Syndrome (TS), which affects approximately 1 in 2,500 live-born females, involvement of a multidisciplinary team is beneficial for the specific aspects of endocrine and cardiac management.

Authors:
Luisa Gonzalez, M.D. and Selma Feldman Witchel, M.D.

Volume 98, Issue 4, Pages 780-786, October 2012

Abstract:
Turner Syndrome (TS) affects approximately 1 in 2,500 liveborn females and is characterized by loss or structural anomalies of an X chromosome. Clinical features vary among patients; multiple organ systems can be affected. Endocrinologists are involved in the management of short stature, delayed puberty, and infertility. Endocrine therapies can include growth hormone, estrogen, and progestagen to promote linear growth and pubertal development. The duration of estrogen and progestagen treatment (HRT) is generally more than 40 years.
There is not one standard HRT protocol that is suitable for all women. Thus, general guidelines are provided for HRT to induce pubertal development. Additional considerations regarding choice of HRT include thrombotic risk and disorders associated with thrombophila. Involvement of cardiologists is important because approximately 50% of patients with TS have congenital structural cardiac anomalies linked to an increased risk for aortic dissection and rupture. Although oocyte donation offers the chance to carry a pregnancy, accumulating information has highlighted the potential dangers associated with pregnancy.
Advances in the care of infants, girls, and women with TS have been achieved. Management of infants, girls, and women with TS involves coordinated care from a multi-disciplinary team, including endocrinologists, cardiologists, geneticists, otolaryngologists, behavioral health experts, nurse educators, and social workers.

  • This is a great resources for REIs and generalists alike. It’s important to understand the cardiac concerns that exist in these TS patients, especially for those that are counseling patients about the risks associated with carrying a pregnancy.

  • laurenwroth

    I agree with the previous poster that this is a great review article. It is comprehensive and has a lot of useful clinical information.

  • j.utah

    This article is a fantastic reference for the counseling and management of Turner Syndrome patients on reproductive issues. Despite a general desire to respect patient autonomy after extensive counseling on reproductive options, I feel uncomfortable actively participating in assisting patients with Turner Syndrome achieve a pregnancy because of the associated maternal mortality and and morbidity associated with pregnancy in these women.

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